ClinVar Miner

Variants in gene ARID1B

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Minimum submission review status: Collection method:
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Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
373 133 614 663 240 1 13 1771

Condition and significance breakdown #

Total conditions: 35
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
not provided 194 37 395 538 228 0 2 1276
Coffin-Siris syndrome 1 153 77 95 20 39 0 10 378
Inborn genetic diseases 49 3 104 173 45 0 0 374
ARID1B-related condition 4 3 34 86 15 0 0 142
not specified 1 0 43 55 24 0 0 120
ARID1B-related BAFopathy 44 2 0 0 0 0 0 46
Intellectual disability 8 1 2 7 0 0 0 18
See cases 4 4 1 1 0 0 0 10
Coffin-Siris syndrome 2 4 1 0 0 0 1 8
Blepharophimosis; Absent speech; Thick lower lip vermilion; Thin upper lip vermilion; Long eyelashes; Intellectual disability, moderate 4 0 0 0 0 0 0 4
Coffin Siris/Intellectual Disability 2 0 2 0 0 0 0 4
ARID1B-related disorder 1 0 2 0 0 0 0 3
Autism spectrum disorder 0 2 0 0 0 0 0 2
Developmental disorder 0 0 1 1 0 0 0 2
Global developmental delay 1 1 0 0 0 0 0 2
Marfanoid habitus and intellectual disability 0 2 0 0 0 0 0 2
Microcephaly 1 0 1 0 0 0 0 2
Neurodevelopmental delay 1 0 1 0 0 0 0 2
Neurodevelopmental disorder 0 1 1 0 0 0 0 2
Adrenal cortex carcinoma 0 0 1 0 0 0 0 1
Astrocytoma 0 0 1 0 0 0 0 1
Congenital cerebellar hypoplasia; Corpus callosum, agenesis of 0 1 0 0 0 0 0 1
Corpus callosum, agenesis of; Hypertrichosis; Global developmental delay; Neonatal hypotonia; Nail dysplasia 1 0 0 0 0 0 0 1
Hypertrichosis; Global developmental delay; Bilateral cryptorchidism; Delayed speech and language development; Intellectual disability; Abnormality of speech or vocalization 0 1 0 0 0 0 0 1
Medulloblastoma 0 0 0 0 0 1 0 1
Nicolaides-Baraitser syndrome 1 0 0 0 0 0 0 1
Pituitary stalk interruption syndrome 0 0 1 0 0 0 0 1
Rare genetic intellectual disability 0 1 0 0 0 0 0 1
Schizophrenia 0 0 1 0 0 0 0 1
Seizure 0 0 1 0 0 0 0 1
Seizure; Intellectual disability 0 0 1 0 0 0 0 1
Seizure; Short stature; Failure to thrive; Constipation; Recurrent respiratory infections; Microcephaly; Decreased body weight 0 0 1 0 0 0 0 1
Torticollis; Global developmental delay; Short stature; Dysphagia; Premature birth; Generalized hypotonia; Joint hypermobility; Relative macrocephaly; Capillary hemangioma; Congenital talipes calcaneovalgus 1 0 0 0 0 0 0 1
Wiedemann-Steiner syndrome 0 1 0 0 0 0 0 1
intellectual deficiency; dysmorphy 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 124
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Invitae 56 6 245 406 162 0 0 875
GeneDx 116 10 115 100 110 0 0 451
Ambry Genetics 49 3 104 173 45 0 0 374
CeGaT Center for Human Genetics Tuebingen 16 7 37 98 19 0 0 177
PreventionGenetics, part of Exact Sciences 4 3 34 86 15 0 0 142
Genetic Services Laboratory, University of Chicago 18 2 34 50 20 0 0 124
Genome-Nilou Lab 34 4 12 11 39 0 0 100
Baylor Genetics 45 5 14 0 0 0 0 64
Revvity Omics, Revvity 5 2 40 0 0 0 0 47
3billion 15 16 0 0 0 0 0 31
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 13 4 0 0 0 0 0 17
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 11 2 3 0 0 0 0 16
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 3 9 3 0 0 16
Institute of Human Genetics, University of Leipzig Medical Center 5 8 3 0 0 0 0 16
Centre for Mendelian Genomics, University Medical Centre Ljubljana 5 1 8 1 0 0 0 15
Mendelics 8 0 2 1 2 0 0 13
Fulgent Genetics, Fulgent Genetics 3 0 5 5 0 0 0 13
New York Genome Center 1 1 11 0 0 0 0 13
OMIM 12 0 0 0 0 0 0 12
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 1 0 5 3 0 0 11
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 5 1 4 0 0 0 0 10
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 9 0 0 0 10
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 3 7 0 0 0 0 0 10
Gharavi Laboratory, Columbia University 0 0 10 0 0 0 0 10
Clinical Genetics and Genomics, Karolinska University Hospital 8 1 0 0 0 0 0 9
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 0 1 6 0 0 0 9
Diagnostic Laboratory, Strasbourg University Hospital 7 0 1 1 0 0 0 9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 6 2 0 0 0 8
Illumina Laboratory Services, Illumina 5 0 3 0 0 0 0 8
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 6 1 0 0 8
Institute of Human Genetics, University of Goettingen 2 2 2 0 0 0 0 6
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 5 1 0 0 0 0 0 6
Eurofins Ntd Llc (ga) 4 0 2 0 0 0 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 5 1 0 0 0 0 0 6
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 3 0 0 0 3 0 0 6
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 4 0 0 0 0 0 6
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 4 0 0 0 0 0 6
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 3 1 1 1 0 0 0 6
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 6 0 0 0 0 0 0 6
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 6 6
Institute of Human Genetics, Cologne University 3 2 0 0 0 0 0 5
Quest Diagnostics Nichols Institute San Juan Capistrano 0 4 1 0 0 0 0 5
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 5 0 0 0 0 0 0 5
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 3 1 0 0 0 0 5
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 2 1 1 1 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 3 1 1 0 0 0 5
MGZ Medical Genetics Center 1 2 1 0 0 0 0 4
Centogene AG - the Rare Disease Company 1 2 1 0 0 0 0 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 4 0 0 0 0 0 0 4
Génétique des Maladies du Développement, Hospices Civils de Lyon 3 1 0 0 0 0 0 4
Laboratory of Medical Genetics, University of Torino 1 3 0 0 0 0 0 4
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 2 2 0 0 0 0 0 4
University of Washington Center for Mendelian Genomics, University of Washington 0 3 0 0 0 0 0 3
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 2 0 0 0 0 0 3
Laboratory of Molecular Genetics, CHU RENNES 0 3 0 0 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 1 1 0 0 0 0 3
Autoinflammatory diseases unit, CHU de Montpellier 1 2 0 0 0 0 0 3
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 2 0 0 0 3
Pediatric Genetics Clinic, Sheba Medical Center 3 0 0 0 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 1 0 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 1 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 1 1 0 0 0 0 2
GeneReviews 0 0 0 0 0 0 2 2
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 0 2 0 0 0 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 2 0 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 2 0 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 2 0 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Center for Personalized Medicine, Children's Hospital Los Angeles 2 0 0 0 0 0 0 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 1 0 0 0 0 2
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 2 0 0 0 0 0 0 2
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 0 2 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 1 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 1 0 0 0 0 2
Clinical Genomics Program, Stanford Medicine 2 0 0 0 0 0 0 2
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 1 0 1 0 0 0 0 2
Molecular Genetics laboratory, Necker Hospital 1 1 0 0 0 0 0 2
Human Genetics Bochum, Ruhr University Bochum 0 1 1 0 0 0 0 2
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 0 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 1 0 0 0 0 0 0 1
Bionano Laboratories 1 0 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 0 1
ISCA site 1 0 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 0 1
Genome Sciences Centre, British Columbia Cancer Agency 0 0 1 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 0 1
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 1 0 0 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 0 0 0 0 0 1 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 0 1
Institute of Cellular and Molecular Medicine, Copenhagen University 1 0 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 0 1
Department of Paediatric Medicine, Post Graduation Institute of Medical Education and Research 1 0 0 0 0 0 0 1
Laboratory of Molecular Neuropathology, The University of Texas Health Science Center at Houston 0 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 0 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 0 1
Department of Laboratory Medicine, Yonsei University College of Medicine 1 0 0 0 0 0 0 1
Laboratoire Génétique Moléculaire, CHRU TOURS 1 0 0 0 0 0 0 1
Human Developmental Genetics, Institut Pasteur 0 0 1 0 0 0 0 1
Department of Pediatrics, Inha University Hospital, Inha University College of Medicine 0 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 1 1
Suma Genomics 1 0 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 0 1
WangQJ Lab, Chinese People's Liberation Army General Hospital 1 0 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 1 0 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 0 1
Shanghai WeHealth Biomedical Technology Company 1 0 0 0 0 0 0 1
Department of Psychiatry, The University of Hong Kong 0 0 1 0 0 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 1 0 0 0 0 0 0 1

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